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Your search keyword '"Rodella, Giulia"' showing total 14 results

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5. A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism

7. Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy

8. Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase ( MCAD ) deficiency: Are predictions possible?

12. Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient.

14. Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report.

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